Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Eosinophil peroxidase deficiency

Eosinophil peroxidase deficiency is a condition caused by mutations of the EPX gene. The pathogenic relevance is still under discussion. Some researchers assume a connection with food intolerance.

Systematic

Food intolerance
Adult type lactose intolerance
Eosinophil peroxidase deficiency
EPX
Fructose intolerance
Fructose malabsorption
Fructose-1,6-bisphosphatase deficiency
Fructosuria
Glucose-Galactose Malabsorption
Histamine Intolerance
Lactase deficiency
Lysinuric protein intolerance
Mast cell activation syndrome
Sitosterolemia
Trehalase deficiency

References:

1.

Romano M et al. (1994) Hereditary eosinophil peroxidase deficiency: immunochemical and spectroscopic studies and evidence for a compound heterozygosity of the defect.

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2.

Nakagawa T et al. (2001) Eosinophilic peroxidase deficiency: Identification of a point mutation (D648N) and prediction of structural changes.

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3.

Zabucchi G et al. (1992) Eosinophil peroxidase deficiency: morphological and immunocytochemical studies of the eosinophil-specific granules.

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4.

Lepelley P et al. (1987) Total peroxidase deficiency in eosinophils: a report on twin sisters, one with a refractory anaemia.

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5.

Valdés MD et al. (1987) Deficiency of eosinophil peroxidase detected by automated cytochemistry.

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6.

Lejeune F et al. (1988) [Peroxidase deficiency in eosinophils: an optical and electron microscopy cytologic study apropos of a case].

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7.

Hoffmann JJ et al. (1987) Partial deficiency of eosinophil peroxidase.

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8.

Presentey B et al. (1969) Hereditary deficiency of peroxidase and phospholipids in eosinophilic granulocytes.

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9.

None (1970) Partial and severe peroxidase and phospholipid deficiency in eosinophils. Cytochemical and genetic considerations.

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10.

None (1969) Morphologic observations and genetic follow-up of a familial anomaly of eosinophils.

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11.

Presentey B et al. (1982) Peroxidase and phospholipid deficiency in human eosinophilic granulocytes--a marker in population genetics.

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12.

None (1984) Ultrastructure of human eosinophils genetically lacking peroxidase.

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13.

OMIM.ORG article

Omim 261500 [^]
Update: April 29, 2019